RESUMEN
The leukocytes of male patients with Fabry's disease are deficient in alpha-galactosidase. The alpha-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of beta-galactosidase, beta-acetylgalactosaminidase, and beta-acetylglucosaminidase in the leukocytes of affected individuals are normal.
Asunto(s)
Angioqueratoma/enzimología , Artritis/enzimología , Errores Innatos del Metabolismo de los Carbohidratos/sangre , Galactosidasas , Leucocitos/enzimología , Adolescente , Adulto , Cerebrósidos , Niño , Femenino , Fluorometría , Glicósido Hidrolasas/sangre , Glicósidos , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Two patients with Fabry's disease were infused with normal plasma to provide active enzyme (ceramide trihexosidase) for hydrolysis of the plasma substrate, galactosylgalactosylglucosylceramide. Maximum ceramide trihexosidase activity occurred 6 hours after infusion of the plasma, attaining a level approximately 150 percent of that in normal plasma; enzymatic activity was detectable for 7 days. The amount of accumulated substrate in the plasma of these recipients decreased about 50 percent on day 10 after infusion. Thus, periodic replacement of ceramide trihexosidase activity in the plasma of patients with Fabry's disease might lead to consistently lower amounts of substrate in the plasma and a decrease in its rate of accumulation in tissues.
Asunto(s)
Angioqueratoma/enzimología , Artritis/enzimología , Glucolípidos/metabolismo , Glicósido Hidrolasas/sangre , Errores Innatos del Metabolismo Lipídico/enzimología , Plasma/enzimología , Adolescente , Adulto , Cerebrósidos/sangre , Cerebrósidos/uso terapéutico , Niño , Preescolar , Ensayos Clínicos como Asunto , Esclerosis Cerebral Difusa de Schilder/enzimología , Factor VIII/metabolismo , Femenino , Enfermedad de Gaucher/enzimología , Glucolípidos/sangre , Glicósido Hidrolasas/uso terapéutico , Humanos , Errores Innatos del Metabolismo Lipídico/tratamiento farmacológico , Lipidosis/enzimología , Hígado/enzimología , Masculino , Persona de Mediana Edad , Sulfatasas/uso terapéutico , Enfermedades de von Willebrand/tratamiento farmacológicoRESUMEN
We report a case of angiokeratoma circumscriptum which we have followed for one year. The skin lesion initially showed erythema and then changed to a dark reddish, raised, keratotic nodule. The lesion histologically showed dilated capillaries and hyperkeratosis. Using immunohistochemistry, matrix metalloproteinase (MMP)-9 was localized in the epidermis just under the horny layer, particularly in the hyperkeratotic lesion. The expression of MMP-9 might be related to the hyperkeratotic changes in this lesion.